A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741823



Internal ID10151150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61273865..61274458hg38UCSC Ensembl
Outerchr20:59848921..59849514hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722692
Supporting Variants
SamplesSSM052
Known GenesCDH4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6741823
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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